TMC8

TMC8
Identifiers
Aliases	TMC8 , EV2, EVER2, EVIN2, transmembrane channel like 8
External IDs	OMIM: 605829; MGI: 2669037; HomoloGene: 45126; GeneCards: TMC8; OMA:TMC8 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q25.3 Start 78,130,770 bp [1] End 78,142,968 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 E2 Start 117,672,902 bp [2] End 117,683,936 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte spleen appendix lymph node blood thymus mucosa of ileum bone marrow cells monocyte superficial temporal artery Top expressed in granulocyte thymus yolk sac blood morula embryo blastocyst stomach transitional epithelium of urinary bladder tail of embryo More reference expression data BioGPS n/a
Gene ontology Molecular function signaling receptor binding protein binding ion channel activity mechanosensitive ion channel activity Cellular component cytoplasm integral component of membrane Golgi apparatus nuclear membrane extracellular exosome endoplasmic reticulum membrane endoplasmic reticulum membrane extracellular space integral component of plasma membrane Biological process negative regulation of protein oligomerization regulation of extrinsic apoptotic signaling pathway via death domain receptors zinc ion homeostasis ion transport negative regulation of protein binding regulation of cell growth transport ion transmembrane transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 147138 217356 Ensembl ENSG00000167895 ENSMUSG00000050106 UniProt Q8IU68 Q7TN58 RefSeq (mRNA) NM_152468 NM_001195088 NM_001195089 NM_001195090 NM_181856 RefSeq (protein) NP_689681 NP_001182017 NP_001182018 NP_001182019 NP_862904 Location (UCSC) Chr 17: 78.13 – 78.14 Mb Chr 11: 117.67 – 117.68 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene. ^{[5] [6]}

Function

The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. ^[6]

Clinical significance

Mutations in the TMC8 gene are associated with epidermodysplasia verruciformis (EV), an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000167895 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000050106 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (December 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis" (PDF). Nature Genetics. 32 (4): 579–81. doi:10.1038/ng1044. PMID   12426567. S2CID   20013445.^{[ permanent dead link ]}
6. "Entrez Gene: TMC8 transmembrane channel-like 8".

Further reading

• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Ramoz N, Taïeb A, Rueda LA, et al. (2000). "Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25". J. Invest. Dermatol. 114 (6): 1148–53. doi: 10.1046/j.1523-1747.2000.00996.x . PMID   10844558.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Keresztes G, Mutai H, Heller S (2003). "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins". BMC Genomics. 4 (1): 24. doi: 10.1186/1471-2164-4-24 . PMC   165604 . PMID   12812529.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Patel AS, Karagas MR, Pawlita M, et al. (2008). "Cutaneous human papillomavirus infection, the EVER2 gene and incidence of squamous cell carcinoma: a case-control study". Int. J. Cancer. 122 (10): 2377–9. doi:10.1002/ijc.23377. PMC   2705140 . PMID   18224692.
• Zavattaro E, Azzimonti B, Mondini M, et al. (2008). "Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations". J. Invest. Dermatol. 128 (3): 732–5. doi: 10.1038/sj.jid.5701124 . PMID   17960179.
• Lazarczyk M, Pons C, Mendoza JA, et al. (2008). "Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses". J. Exp. Med. 205 (1): 35–42. doi:10.1084/jem.20071311. PMC   2234378 . PMID   18158319.
• Kurima K, Yang Y, Sorber K, Griffith AJ (2003). "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis". Genomics. 82 (3): 300–8. doi:10.1016/S0888-7543(03)00154-X. PMID   12906855.
• Rady PL, De Oliveira WR, He Q, et al. (2007). "Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family". Br. J. Dermatol. 157 (4): 831–3. doi:10.1111/j.1365-2133.2007.08123.x. PMID   17711520. S2CID   34199539.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.